D133N (p.Asp133Asn) variant of UNC13D (Protein unc-13 homolog D)
D133N (p.Asp133Asn) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
D133N (p.Asp133Asn) variant details
- p.Asp133Asn
- rs534150507
- ClinGen CA8773487
- ClinVar RCV002572237
- 1000Genomes rs534150507
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.57
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available